Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
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Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
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Inherited Metabolic Diseases of the Nervous System, Metachromatic Leukodystrophy
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Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
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Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Glycogen-Storage Disease Type II
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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Autosomal Dominant Diffuse Leukoencephalopathy with Neuroaxonal Spheroids
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Niemann-Pick Disease Type C: Two Cases and an Update
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Mucolipidosis Type IV; Characteristic MRI Findings
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Niemann-Pick Disease Type C from Bench to Bedside
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Genetic Diagnosis of Gaucher's Disease
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Fucosidosis Revisited:A Review of 77 Patients
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Screening for Carriers of Tay-Sachs Disease Among Ashkenazi Jews
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Anderson-Fabry Disease
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Neuroaxonal Dystrophy Due to Lysosomal a-N-Acetylgalactosaminidase Deficiency
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Neurologic Complications in Long-Standing Nephropathic Cystinosis
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Amaurotic Family Idiocy
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Screening for Inherited Metabolic Diseases in Adults with Neurological Disease
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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CT in Ceroid Lipofuscinosis
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Bone-Marrow Transplantation for Neurovisceral Storage Disorders
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Progressive Myoclonus Epilepsies:Specific Causes & Diagnosis
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GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
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Familial Occurrences of Adult-Type Neuronal Ceroid Lipofuscinosis
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Infantile Osteopetrosis & Neuronal Storage Disease
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Inborn Errors of Metabolism
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Computed Tomography in Cerebrotendinous Xanthomatosis
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Prenatal Genetic Diagnosis in 3000 Amniocenteses
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Juvenile Neuroaxonal Dystrophy:Clinical, Electrophysiological, & Neuropathological Features
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Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
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Prenatal Genetic Diagnosis
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Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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Thyrotoxic Periodic Paralysis
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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